Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy.

Parents often notice early signs such as delayed motor development and difficulty keeping up with other children during play. Children with DMD may have a waddling gait, walk on their toes and develop a distinct way of rising from the floor known as Gower’s manoeuvre.

DMD is usually diagnosed in boys between the ages of 2 and 5. In rare cases, it can also affect girls. Diagnosis may occur earlier if there is a known family history.

It’s not uncommon for more than one sibling to be affected. Advances in genetic testing have improved the identification of carriers and support informed family planning decisions.

Becker Muscular Dystrophy Diagram

Symptoms

Duchenne muscular dystrophy (DMD) is characterised by progressive degeneration of muscles and weakness due to changes in the gene which affects the production of a protein vital for muscle structure, dystrophin. This muscle weakness and degeneration causes a range of issues that develop over time, including:

Difficulty moving, including walking, running and climbing stairs.
As the condition progresses, a manual wheelchair or small motorised scooter may be recommended to manage fatigue over longer distances while still allowing the child to participate in everyday activities. Eventually, a powerchair (electric wheelchair) is required for mobility throughout the day, and assistance is needed with everyday tasks such as getting in and out of bed, showering, dressing and eating.
Muscle fatigue and cramps.
Muscle and joint contractures (tightened muscles). As muscle breaks down, it is replaced with scar tissue, which is not as flexible. This can also cause certain muscles, such as the calves, to appear enlarged.
Postural changes due to weakness in the muscles that support the spine. This can lead to lordosis (curvature in the lower back) or scoliosis (sideways curvature of the spine, sometimes with rotation).
Weakness of the diaphragm and other muscles that support breathing. This can affect respiratory function and make coughing less effective, increasing the risk of serious respiratory infections such as pneumonia. Ventilation devices such as cough assist machines can help maintain healthy breathing and respiratory function.
Weakening of the heart muscle due to a lack of dystrophin, leading to a condition known as cardiomyopathy. This can affect the heart’s ability to pump blood effectively and may require ongoing cardiac monitoring and treatment.

While the progression of symptoms varies between individuals, early intervention, regular monitoring, and supportive therapies can help maintain quality of life and independence for as long as possible.

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Medical Alert Cards

Muscular Dystrophy Queensland has created condition-specific alert cards for the most diagnosed neuromuscular conditions.

These cards mean that people living with muscle wasting conditions and their families will have the security of knowing they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults with these conditions.

Order our Medical Alert Card for Duchenne muscular dystrophy today

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By becoming registered with Muscular Dystrophy Queensland you will be able to gain access to relevant supports.

At Muscular Dystrophy Queensland we don’t see you as just a client. You are a valued member of our community. We’re here to support you through every stage of life. We’d like to keep in touch with you, to understand your needs as they evolve and provide you with ongoing access to our range of services.